Canonical Allele Identifier: CA2747721873

Gene: USH2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.215799157_215799158insA , CM000663.2:g.215799157_215799158insA	GRCh38
NC_000001.10:g.215972499_215972500insA , CM000663.1:g.215972499_215972500insA	GRCh37
NC_000001.9:g.214039122_214039123insA	NCBI36
NG_009497.1:g.629239_629240insT
NG_009497.2:g.629291_629292insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307340.8:c.9740-33_9740-32insT MANE Select	ENSP00000305941.3:n.9740-33_9740-32insT
ENST00000674083.1:c.9740-33_9740-32insT	ENSP00000501296.1:n.9740-33_9740-32insT
ENST00000307340.7:c.9740-33_9740-32insT	ENSP00000305941.3:n.9740-33_9740-32insT
NM_206933.2:c.9740-33_9740-32insT	NP_996816.2:n.9740-33_9740-32insT
NM_206933.3:c.9740-33_9740-32insT	NP_996816.2:n.9740-33_9740-32insT
NM_206933.4:c.9740-33_9740-32insT MANE Select	NP_996816.3:n.9740-33_9740-32insT